Variant report

Variant	rs1138729
Chromosome Location	chr2:10271196-10271197
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:10270635..10275854-chr2:10544682..10552679,11	K562	blood:
2	chr2:10271027..10273752-chr6:16266812..16269282,2	K562	blood:
3	chr2:10270582..10273384-chr2:10586380..10588752,3	K562	blood:
4	chr2:10269549..10271844-chr2:10457864..10459468,2	MCF-7	breast:
5	chr2:10270582..10273384-chr2:10586472..10588752,3	K562	blood:

Variant related genes	Relation type
ENSG00000206633	Chromatin interaction
ENSG00000115758	Chromatin interaction

Extended variants
information (count: 24 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs11691833	1.00[ASN][1000 genomes]
rs13395772	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4669527	1.00[CHB][hapmap]
rs4669529	1.00[ASN][1000 genomes]
rs4669534	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4669536	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4669537	0.82[EUR][1000 genomes]
rs4669545	1.00[CHB][hapmap]
rs6432063	1.00[ASW][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[TSI][hapmap];0.83[YRI][hapmap];0.85[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs6706848	1.00[CHB][hapmap]
rs72544298	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73167392	1.00[ASN][1000 genomes]
rs7574663	1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[YRI][hapmap];0.85[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs7582263	1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[TSI][hapmap];1.00[ASN][1000 genomes]
rs7585544	1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[TSI][hapmap];1.00[ASN][1000 genomes]
rs7587317	1.00[CHB][hapmap]
rs7587529	1.00[CHB][hapmap]
rs7602408	1.00[CHB][hapmap]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1011125	chr2:9996740-10293803	Enhancers Strong transcription Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	83 gene(s)	inside rSNPs	diseases
2	nsv1011689	chr2:10023891-10293803	Flanking Active TSS Weak transcription Enhancers Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	83 gene(s)	inside rSNPs	diseases
3	nsv1007965	chr2:10154960-10276125	Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	80 gene(s)	inside rSNPs	diseases
4	nsv1014790	chr2:10156968-10274855	Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers Strong transcription Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	80 gene(s)	inside rSNPs	diseases
5	nsv999019	chr2:10157762-10273232	Enhancers Active TSS Weak transcription ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	80 gene(s)	inside rSNPs	diseases
6	nsv963870	chr2:10269043-10272937	Enhancers Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region miRNA target site	4 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs1138729	RRM2	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:75 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:10263800-10272200	Weak transcription	Gastric	stomach
2	chr2:10263800-10277400	Weak transcription	Esophagus	oesophagus
3	chr2:10263800-10283600	Weak transcription	Spleen	Spleen
4	chr2:10264200-10281800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
5	chr2:10264600-10272000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr2:10264600-10272800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr2:10265400-10271400	Strong transcription	iPS-18 Cell Line	embryonic stem cell
8	chr2:10265400-10271400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
9	chr2:10265400-10272000	Strong transcription	H1 Cell Line	embryonic stem cell
10	chr2:10265400-10272200	Strong transcription	HUES48 Cell Line	embryonic stem cell
11	chr2:10265400-10273600	Strong transcription	HUES64 Cell Line	embryonic stem cell
12	chr2:10265400-10280000	Weak transcription	Fetal Kidney	kidney
13	chr2:10265400-10284000	Weak transcription	Placenta	Placenta
14	chr2:10265600-10272800	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr2:10265600-10273800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr2:10265600-10275600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr2:10265600-10276000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr2:10266000-10275400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
19	chr2:10266200-10271800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
20	chr2:10266200-10272000	Weak transcription	Primary T cells fromperipheralblood	blood
21	chr2:10266200-10272200	Strong transcription	HUES6 Cell Line	embryonic stem cell
22	chr2:10266200-10272400	Weak transcription	Primary neutrophils fromperipheralblood	blood
23	chr2:10266200-10272800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr2:10266200-10276000	Weak transcription	Muscle Satellite Cultured Cells	--
25	chr2:10266400-10273600	Strong transcription	Fetal Muscle Trunk	muscle
26	chr2:10266600-10273000	Strong transcription	HMEC	breast
27	chr2:10267000-10271400	Strong transcription	Primary hematopoietic stem cells	blood
28	chr2:10267200-10272000	Weak transcription	Rectal Mucosa Donor 29	rectum
29	chr2:10267200-10273000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
30	chr2:10267400-10273000	Weak transcription	Liver	Liver
31	chr2:10267400-10273200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
32	chr2:10267400-10277600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr2:10267600-10274800	Weak transcription	Fetal Lung	lung
34	chr2:10268000-10271800	Weak transcription	Fetal Stomach	stomach
35	chr2:10268600-10271400	Weak transcription	Fetal Intestine Large	intestine
36	chr2:10268800-10271600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
37	chr2:10268800-10272000	Strong transcription	Fetal Thymus	thymus
38	chr2:10268800-10272200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
39	chr2:10268800-10272800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr2:10268800-10274000	Strong transcription	Cortex derived primary cultured neurospheres	brain
41	chr2:10269000-10271800	Weak transcription	Fetal Intestine Small	intestine
42	chr2:10269000-10272000	Weak transcription	Thymus	Thymus
43	chr2:10269000-10276000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
44	chr2:10269000-10277000	Weak transcription	HSMM	muscle
45	chr2:10269400-10272000	Strong transcription	Hela-S3	cervix
46	chr2:10269600-10299400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
47	chr2:10269800-10271600	Weak transcription	Fetal Muscle Leg	muscle
48	chr2:10269800-10271600	Weak transcription	NHDF-Ad	bronchial
49	chr2:10269800-10271800	Weak transcription	NHEK	skin
50	chr2:10269800-10272000	Weak transcription	iPS-15b Cell Line	embryonic stem cell

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